Table 2.
Number of variants called from whole-blood (WB) and dried blood spots (DBS) samples from the trio
| WB | DBS | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Father | Mother | Proband | Total | Father | Mother | Proband | Total | Overlap | |
| Variants called | 592,661 | 747,825 | 591,139 | 1,538,193 | 898,132 | 726,946 | 862,282 | 2,135,974 | 430,865 |
| Filtered variants* | 161,705 | 171,137 | 162,323 | 219,586 | 163,433 | 160,447 | 162,179 | 245,736 | 209,931 |
| Variants by impact | |||||||||
| High | 842 | 928 | 896 | 1219 | 1361 | 1415 | 1386 | 2804 | 1146 |
| Moderate | 11.254 | 11,683 | 11,328 | 15,583 | 12,897 | 12,853 | 12,368 | 21,149 | 14,855 |
| Low | 14,988 | 15,616 | 15,186 | 20,413 | 15,212 | 15,175 | 14,883 | 22,731 | 19,627 |
| Modifier | 134,621 | 142,910 | 134,913 | 182,371 | 133,963 | 131,004 | 133,542 | 199,052 | 174,303 |
| Phasing | |||||||||
| SNPs phased (%) | 81 | 84 | 75 | 58 | 40 | 49 | |||
| Genes phased (<100 kb) (%) | 92 | 94 | 85 | 42 | 21 | 33 | |||
| Longest phase block (kb) | 938 | 2 071 | 1 058 | 149 | 116 | 100 | |||
| N50 phase block (kb) | 124 | 176 | 113 | 13 | 4 | 11 | |||
The total number of variants corresponds to variants seen in at least one of the individuals in the trio. The overlap is the number of variants present in the total DBS and WB data sets. Phasing summary is based on filtered variants only
*Filters: read depth >20, variant call quality >20, and multi-allelic sites removed